Canonical Allele Identifier: CA386777534

Gene: PTPN11

Linked Data

• ClinVar Variation Id: 981577
• ClinVar RCV Id: RCV001261097
• MyVariant Identifiers: chr12:g.112888155G>T (hg19) ; chr12:g.112450351G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.112450351G>T , CM000674.2:g.112450351G>T	GRCh38
NC_000012.11:g.112888155G>T , CM000674.1:g.112888155G>T	GRCh37
NC_000012.10:g.111372538G>T	NCBI36
NG_007459.1:g.36620G>T , LRG_614:g.36620G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000639857.2:c.171G>T	ENSP00000491593.2:p.Gln57His
ENST00000685487.1:c.171G>T	ENSP00000508503.1:p.Gln57His
ENST00000687906.1:c.171G>T	ENSP00000509536.1:p.Gln57His
ENST00000688597.1:c.171G>T	ENSP00000510628.1:p.Gln57His
ENST00000690210.1:c.171G>T	ENSP00000509272.1:p.Gln57His
ENST00000692624.1:c.171G>T	ENSP00000508953.1:p.Gln57His
ENST00000351677.7:c.171G>T MANE Select	ENSP00000340944.3:p.Gln57His
ENST00000639857.1:c.171G>T	ENSP00000491593.1:p.Gln57His
ENST00000351677.6:c.171G>T	ENSP00000340944.2:p.Gln57His
ENST00000392597.5:c.171G>T	ENSP00000376376.1:p.Gln57His
ENST00000635625.1:c.171G>T	ENSP00000489597.1:p.Gln57His
NM_002834.3:c.171G>T , LRG_614t1:c.171G>T	NP_002825.3:p.Gln57His
NM_080601.1:c.171G>T	NP_542168.1:p.Gln57His
XM_006719526.1:c.171G>T	XP_006719589.1:p.Gln57His
XM_006719527.1:c.171G>T	XP_006719590.1:p.Gln57His
XM_011538613.1:c.168G>T	XP_011536915.1:p.Gln56His
NM_001330437.1:c.171G>T	NP_001317366.1:p.Gln57His
NM_002834.4:c.171G>T	NP_002825.3:p.Gln57His
NM_080601.2:c.171G>T	NP_542168.1:p.Gln57His
XM_011538613.2:c.168G>T	XP_011536915.1:p.Gln56His
XM_017019722.1:c.168G>T	XP_016875211.1:p.Gln56His
NM_001330437.2:c.171G>T	NP_001317366.1:p.Gln57His
NM_001374625.1:c.168G>T	NP_001361554.1:p.Gln56His
NM_002834.5:c.171G>T MANE Select	NP_002825.3:p.Gln57His
NM_080601.3:c.171G>T	NP_542168.1:p.Gln57His